rs2283228
A SNP in the KCNQ1 gene on chromosome 11. Its most notable genotype is A;A: common in complete genomics
- Gene
- KCNQ1
- Location
- Chr 112,828,300 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 18%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 69%
- European ancestry (Utah)A;A 85%
- Han Chinese (Beijing)A;A 41%
- Japanese (Tokyo)A;A 33%
- Yoruba (Nigeria)A;A 78%
- African ancestry (Southwest US)A;A 86%
- Chinese (Denver)A;A 37%
- Gujarati IndianA;A 96%
- Luhya (Kenya)A;A 80%
- Mexican ancestry (Los Angeles)A;A 62%
- Maasai (Kenya)A;A 75%
- TuscanA;A 88%
Related
Conditions, medicines and genes
Other KCNQ1 SNPs
- rs17215500T;TLQT1 form of Long QT syndrome; Jervell and Lange-Nielsen syndromeVery important
- rs179489C;GRomano-Ward Long QT SyndromeVery important
- rs1800171A;GRomano-Ward Long QT SyndromeVery important
- rs12720459C;TLQT1 form of Long QT syndromeVery important
- rs104894252A;GRomano-Ward Long QT SyndromeVery important
- rs104894255A;GRomano-Ward Long QT SyndromeVery important
- rs120074177C;GRomano-Ward Long QT SyndromeVery important
- rs120074178A;GRomano-Ward Long QT SyndromeVery important
Notes
From SNPedia
Notes
nature type-2 diabetes *rs2283228 (additive model P = 3.1 times 10-12; OR = 1.26, 95% CI = 1.18–1.34).
Source and license
Adapted from rs2283228 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.